ClinVar

NM_001034853.2(RPGR):c.3413A>G (p.Lys1138Arg)

Gene:

RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38285586 (on Assembly GRCh38)
• ChrX: 38144839 (on Assembly GRCh37)

Preferred name:

NM_001034853.2(RPGR):c.3413A>G (p.Lys1138Arg)

HGVS:

• NC_000023.11:g.38285586T>C
• NG_009553.1:g.46950A>G
• NM_000328.3:c.1905+1508A>G
• NM_001034853.2:c.3413A>GMANE SELECT
• NM_001367245.1:c.1902+1508A>G
• NM_001367246.1:c.1719+1508A>G
• NM_001367247.1:c.1572+5373A>G
• NM_001367248.1:c.1602+5373A>G
• NM_001367249.1:c.1569+5373A>G
• NM_001367250.1:c.1569+5373A>G
• NM_001367251.1:c.1386+5373A>G
• NP_001030025.1:p.Lys1138Arg
• NC_000023.10:g.38144839T>C

This HGVS expression did not pass validation

Protein change:

K1138R

Links:

dbSNP: rs1569234937

NCBI 1000 Genomes Browser:

rs1569234937

Molecular consequence:

• NM_000328.3:c.1905+1508A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367245.1:c.1902+1508A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367246.1:c.1719+1508A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367247.1:c.1572+5373A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367248.1:c.1602+5373A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367249.1:c.1569+5373A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367250.1:c.1569+5373A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367251.1:c.1386+5373A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001034853.2:c.3413A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1